Genetic disorders database

You can see all the disorders listed in our database below. If you would like to add a new entry, please click the button below. If you would like to edit existing listing, you can do so by clicking on one of the disorders below.

I would like to add a new database entry
  • Stickler Syndrome Stickler Syndrome

    Connective tissue disorder affecting formation of collagen. Characterized by distinctive facial abnormalities (Pierre Robin Sequence (Small lower jaw and wide cleft palate), cleft palate, high arched palate), eye problems (short sightedness, cataracts, retinal detachment), hearing loss, and joint problems. Individuals with Stickler syndrome experience a range of signs and symptoms, some people have no signs and symptoms.

  • Tay-Sachs Tay-Sachs

    Tay-Sachs is a genetic disorder caused by a defect in the HEXA gene which produces the beta-hexosaminidase A enzyme. The enzyme is important as it breaks down harmful waste products in the brain and without it these build up and cause extensive damage to the brain’s nerve cells. Physically, an individual diagnosed with Tay-Sachs will suffer a relentless deterioration of mental and physical abilities.

  • Thalassemia Thalassemia

    People with thalassemia make less hemoglobin and have fewer circulating red blood cells than normal, which results in mild or severe microcytic anemia. Thalassemia can cause complications, including iron overload, bone deformities, and cardiovascular illness.

  • Treacher Collins Syndrome (TCS) Treacher Collins Syndrome (TCS)

    TCS is a genetic condition affecting the growth and development of bones and tissue of the face. The severity of the symptoms expressed in affected indivuals varies greatly. TCS does not affect intelligence.

  • Trichorhinophalangeal Syndrome Trichorhinophalangeal Syndrome

    Trichorhinophalangeal Syndrome is a genetic disorder found in one in every 100,000 people globally. This conditions causes hypermobility in all of the joints in the body; this then causes the person with TRPS to have pain in their joints. It gets it's name from how it effects hair growth (tricho), nasal structure (rhino) and the hands (phalangeal). Currently, there is little to no research on the condition due to a lack of funding.

  • Tubulinopathy Tubulinopathy

    A disorder of the structure of the brain resulting from a genetic malfunction in which the protein, Tubulin, is not released at the correct time in a developing brain. As a result in very early stages of brain development, complex malformations occur as cells are sent to the wrong place.

  • Turner Syndrome Turner Syndrome

    This condition affects only females Syndrome occurs where one X chromosome is either missing or damaged. The most common feature of Turner syndrome is short stature.

  • Undignosed gentic disorder Undignosed gentic disorder

    1yr 2months old toddler and he weighs and looks about 7months old, wont gain any weight under the 4thcentile since birth , he was born 2.4kg and got unconjugated jaundice and had it for up to 6months . Had many tests done but couldnt find a dignose.

  • Vascular Ehlers-Danlos Syndrome Vascular Ehlers-Danlos Syndrome

    Vascular EDS is a serious condition that is associated with a risk of sudden death due to arterial or organ rupture at any age. The major risks for patients with vascular EDS are arterial (including aortic) dissection, rupture and aneurysm which accounts for the majority of deaths in vascular EDS.

  • Von Hippel–Lindau disease Von Hippel–Lindau disease

    A rare, autosomal dominant genetic condition that predisposes individuals to benign and malignant tumours.

  • Wiedemann-Steiner Syndrome Wiedemann-Steiner Syndrome

    A genetic disorder causing low muscle tone, short stature and developmental delays

  • Wolf–Hirschhorn syndrome Wolf–Hirschhorn syndrome

    Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures.

  • Wolfram Syndrome Wolfram Syndrome

    A progressive neurodegenerative condition causing Diabetes Insipidus(water diabetes), Diabetes Mellitus, Optic Atrophy(loss of vision), Deafness. Can also cause choking, neurogenic bladder, anxiety, depression, colour blindness, loss of 3D vision and neurological issues

  • Xeroderma Pigmentosum Xeroderma Pigmentosum

    XP is a recessive genetic condition that causes a hyper-sensitivity to UV light. XP patients lack the ability to repair damage to skin cells caused by UV and therefore develop skin cancers. They are 10,000 times more likely to develop skin cancer than the normal population

  • Xia-Gibbs syndrome Xia-Gibbs syndrome

    mutations on the AHDC1 gene on chromosome one causing intellectual disability, sleep disorders, with similar mildly dysmorphic features

  • Zellweger Syndrome Zellweger Syndrome

    Affected children generally show symptoms from birth such as jaundice, hypotonia, deafness, failure to thrive and liver dysfunction. As the disease progresses children deal with global disabilities, vision impairment, adrenal insufficiency and seizures. Children may also suffer renal stones, low bone density and blood clotting issues. It's fatal.

Please let us know more about you

In order to allow you to upload a new listing, please fill in the fields below and click submit to proceed to to the upload page.

used only if we have questions about your entry.

Share this page